Handbook of Genetic Counseling/Turner Syndrome-2

Turner Syndrome

Contracting

• Introductions and acknowledge prior contact
• Forewarning to provide an opportunity for cognitive and emotional preparation
  • When we met two weeks ago, Dr. Doktour ordered a chromosome test to see if you had any missing or extra genetic material that might explain why you have a shorter stature and why you haven't started menstruating.
• Acknowledge previous visit- discussion of Turner syndrome
  • As we discussed last time, individuals with Turner syndrome only have one X-chromosome instead of the expected two copies (show visual aid to reinforce).
  • Women that have Turner syndrome are unable to reproduce because ovulation does not occur.
• Acknowledge her pain
  • I know that you and your fiancé were really looking forward to having children, I'm so sorry it turned out this way.

-An edit from someone with experience receiving this diagnosis: A very helpful thing to say instead in that moment is something along the lines of, "If you want to be a mother, you will be."

Discuss agenda

(Assess understanding throughout discussion)

• There are many areas that we can discuss today. We can talk about as much or as little about Turner syndrome as you would like.
• Areas we can discuss today
  • How this happened, what the diagnosis means for you, reproductive options.
• What would you like to talk about?
  • How did this happen?
    • Genes and chromosomes- less specific if needed
    • Some of your genetic material is missing- you only have one X-chromosome instead of the expected two copies.
    • The X chromosome is one of the sex chromosomes and two copies are required for sexual development in a female to occur as expected.
    • Reinforce (considering family hx. of short stature and "late bloomers") that Turner syndrome does not run in families

What this diagnosis means for you and your health

• Mild physical differences: short neck, low hairline, broad chest, small fingernails, and often have many moles.
  • Women with Turner syndrome do not look very different from women that do not have Turner syndrome. In most cases, you and I would not be able to tell the difference-usually only someone that is trained to look for these differences would be able to do so.
• Medical complications:
  • Endocrine:
    • Ovaries do not develop properly therefore the hormones produced by the ovary, estrogen and progesterone, are not produced.
    • These hormones are required for:
      • Development and maintenance of secondary sexual characteristics
      • Preparation of the uterus for pregnancy
      • Development of the mammary gland
        • Hormone replacement regimen- to promote 2ndary sexual characteristics and to initiate menses.
    • Hypothyroidism (insufficient thyroid secretion of T3 and T4) is common in Turner syndrome
  • Renal anomalies-
    • Sometimes the kidneys fuse together or there is a duplication of the ureters (this just means that you are at a higher risk of UTI's)
    • Order renal ultrasound
  • Cardiac anomalies-
    • Coarctation of the aorta, VSD, bicuspid aortic valve
    • Some are born with heart defects- (about 15-20%)
    • Risk for other complications (aortic aneurysm) in those that have coarctation or bicuspid aortic valve.
    • Hypertension is also commonly seen in individuals with Turner syndrome.
      • Risk increases with age and obesity
      • Will need routine blood pressure checks
    • We will need to order an echocardiogram (type of ultrasound that we can use to visualize all of the internal parts of the heart)
  • Hearing
    • Increased frequency of chronic ear infections (80%)
    • Some hearing loss may be due to chronic infections
  • Ophthalmologic:
    • Ocular problems are present in ½ of girls
      • Strabismus
      • Ptosis
      • Hyperopia (far-sightedness)
      • Myopia (near-sightedness)
      • Cataracts
      • Nystagmus
    • Musculoskeletal:
    • Short stature (100%)
    • Cubitis valgus (increased carrying angle at the elbow)
  • Lymphadema-
    • Puffiness in utero is a major feature of Turner syndrome
• TAKE HOME MESSAGE: we will want to schedule some tests for you:
  • Echocardiogram
  • Renal ultrasound (also evaluate ovaries and uterus)
  • Routine blood pressure checks- monitor hypertension
  • See an endocrinologist for hormone replacement
  • Screen for thyroid function annually
    • Family planning options:
      • (Spontaneous pregnancies have occurred in mosaics-some cells have both X's and some only have one X)- don't discuss unless client wishes to do so.
      • Artificial reproductive therapy (ART)- although ovulation does not occur, the uterus is usually structurally normal, which means that women with Turner's syndrome are capable of carrying a child.
      • In-vitro fertilization: donor egg + fiancé's sperm, create embryo in the laboratory and then implant the embryo into your uterus.
        • Expensive though
        • Treat with hormones, estradiol and progesterone early in pregnancy until sufficient placental production of hormones
      • Adoption
        • Can provide information on centers in the area, if you decide this is an option for you.
    • Life Expectancy:
      • Studies have shown that individuals with Turner syndrome have a normal life expectancy if no heart or renal defects are present.

Psychosocial Counseling/ Questions

• How are you feeling right now?
• What questions do you have?
• Am I making sense to you?
• Tell me what you are feeling right now…..
• Normalize…it is very normal to feel this way
• Acknowledge the patient's reaction to the news
  • This must be very overwhelming for you
  • I can see that this is very hard for you….I'm sorry for your pain
• How have you handled difficult situations in the past?
• Do you have family/friends in the area?
• Provide hope…discuss family planning options….no decreased lifespan…a lot of the medical problems associated with TS, we know that you do not have.

Planning and following through

• I'm going to call you tomorrow afternoon, is that ok?
• I have scheduled an appointment to meet next week. Will your fiancé be back in town?
• I will schedule appointments for you to have testing done and will notify you with those dates.
  • These are not urgent tests that have to be done tomorrow. You have lived 27 years with Turner syndrome. Nothing has changed, except that now you know why you have short stature and haven't begun menstruating.

Support Resources

• Patient fact sheet information: (print off copy for patient)
• http://www.endo-society.org
• http://www.turner-syndrome-us.org
• http://www.tensiometre24.com
• Provides information on the medical facts of Turner syndrome, members only site where there are chat rooms, message boards, and newsletters.
• This site will provide a lot of the same information we talked about today.

Resources

• American Academy of Pediatrics Committee on Genetics (1005). Health supervision for children with Turner syndrome. Pediatrics. 96: 1166-1173.
• Sybert VP (2001). Turner Syndrome. In: Management of Genetic Syndromes. Eds: Cassidy SB, Allanson JE. Wiley-Liss, Inc.
• Dr. Schorry's clinical genetics lecture notes.

Support Resources

• http://www.turner-syndrome-us.org
• Provides information on the medical facts of Turner syndrome, members only site where there are chat rooms, message boards, and newsletters.

Tests that we will be ordering

• Echocardiogram
• Renal ultrasound (also evaluate ovaries and uterus)
• Routine blood pressure checks- monitor hypertension
• Screen for thyroid function annually
• We will also schedule you an appointment to see an endocrinologist to discuss hormone replacement therapy.

Notes

The information in this outline was last updated in 2001.